Varaico: Literature-Extracted Genetic Variants

Gene:CYP2U1
Variant:p.H305Y
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CYP2U1

NM_183075.3:p.H305Y

Associated Papers

Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family.

Yu HP et al.

Bmc Neurology, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."